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Quest Diagnostics

Rare diseases

Genetic and rare disease solutions

Our specialized testing provides actionable insights in genetic and rare diseases, helping to improve patient care and pharmaceutical drug research and development.

Collaborate with Quest

Expansive and deep testing capabilities

Quest Diagnostics is at the forefront of genetics and rare disease diagnostics, offering an integrated approach to support orphan drug development and commercialization. By consolidating our market-leading capabilities, we deliver unmatched expertise and an extensive test menu to pharmaceutical partners.

Our genetic testing services span major clinical areas, including but not limited to:

Neurology

Advanced diagnostics for neurological disorders, leveraging next-generation sequencing (NGS) to identify genetic markers associated with diseases such as epilepsy, Alzheimer's, and other neurodegenerative conditions

Oncology

Comprehensive cancer genomic profiling, utilizing both solid tumor and liquid biopsy samples to detect actionable mutations and guide targeted therapy decisions

Cardiology

In-depth cardiogenetic testing to identify inherited cardiovascular diseases, employing techniques such as NGS, SNP array analysis, and lipidomics profiling for a holistic understanding of cardiovascular risk

Pediatric and reproductive genetics

Wide-ranging tests for prenatal, neonatal, and pediatric conditions, including carrier screening, noninvasive prenatal testing (NIPT), and in-depth analysis for inherited metabolic disorders

Hematology

Detailed genetic analyses for blood disorders, including anemias, clotting dysfunctions, and hemoglobinopathies, using advanced molecular techniques

Infectious disease

State-of-the-art genomic testing to identify and characterize infectious agents, supporting personalized treatment strategies and epidemiological surveillance

Technical expertise across major platforms and technologies

Quest Diagnostics harnesses a variety of cutting-edge technologies and platforms to provide precise and actionable diagnostic insights.

 

  • Next-generation sequencing (NGS): Our NGS capabilities allow for comprehensive genetic analysis, from targeted gene panels to deep intronic variants, uniform sequencing, difficult-to-sequence genes, and mitochondrial genome to whole-exome and whole-genome sequencing, enabling detailed variant detection across a wide array of conditions
  • Molecular diagnostics: Utilizing PCR, microarray, and other molecular techniques for rapid and sensitive detection of genetic variations, supporting early diagnosis and personalized treatment strategies
  • Digital pathology and AI: Leveraging digital pathology and artificial intelligence to enhance diagnostic accuracy, particularly in oncology, by providing detailed analysis of tissue samples and identifying subtle markers indicative of specific cancer types

Advancing through multi-omics

Understanding the complexity of rare diseases extends beyond traditional genetic testing. Our capabilities further incorporate:

  • Epigenetics: Insights into gene regulation mechanisms through the analysis of DNA methylation patterns and histone modifications

  • Transcriptomics: Identification of gene expression changes and splice variants for disease mechanism understanding

  • Metabolomics (Including biochemical testing): Analyzing metabolites to understand metabolic disorders and enzyme deficiencies, providing a comprehensive view of biochemical pathways affected by genetic variations

  • Future capabilities: Actively exploring opportunities to integrate additional omics layers, such as proteomics and microbiomics, to enhance our understanding and treatment of rare diseases

Supporting orphan drug development

Quest Diagnostics provides a comprehensive suite of services designed to support every phase of orphan drug development, from discovery through post-market surveillance. Leveraging our expertise and capabilities, we offer innovative solutions tailored to the unique needs of orphan drug development.

Patient identification and stratification

Advanced diagnostics and analytics identify and stratify patient populations, crucial for early phase research.

Clinical trial support

Tailored assay development and an extensive test menu, supported by our regulatory expertise, facilitate global trial execution with precision.

Clinical trials recruitment

Efficient patient recruitment strategies and our extensive network accelerate enrollment and study timelines, enhancing trial efficiency.

Companion diagnostic development

Develop and commercialize companion diagnostics, integral for ensuring the therapeutic efficacy and safety of orphan drugs.

Sponsored testing

Partnering with pharmaceutical companies to provide testing access for patients to support the use of therapies.

Mobile phlebotomy

Increase reach, accessibility, and convenience for better adoption with patient-centric in-home specimen collection options.

Patient engagement

Our patient support services offer compassionate health coaching and engagement that leads to better adherence and outcomes.

Data licensing

Use real-time de-identified data to find the right patient at the right time for the right treatment, with licensing by cohort or disease state. 

Why partner with Quest Diagnostics

Quest Diagnostics stands apart with:

Stability and trust

A proven track record of reliability and the go-to partner that consistently delivers for the pharmaceutical industry

Unparalleled expertise

Over 700 medical, scientific, and regulatory thought leaders dedicated to patient care transformation

Global reach, local expertise

Worldwide clinical trial support with precise expertise for specific regulatory and clinical needs

Commitment to innovation

A relentless pursuit of diagnostic advancements to overcome rare disease challenges

Regulatory

Our experienced regulatory team supports a broad range of submissions, including 510(k) and Premarket Approval (PMA) application

 

White paper

Rare Disease Diagnostics: Advancing orphan drug development through precision testing

Explore the challenges facing orphan drug development and the importance of early diagnosis.
Download white paper
close up shot of scientist hands pipetting sample into dish for DNA testing in laboratory

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Connect with us to explore how Quest Diagnostics can enhance your orphan drug development strategies with our advanced genetics and rare disease solutions.

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Quest® is the brand name used for services offered by Quest Diagnostics Incorporated and its affiliated companies. Quest Diagnostics Incorporated and certain affiliates are CLIA certified laboratories that provide HIPAA covered services.  Other affiliates operated under the Quest® brand, such as Quest Consumer Inc., do not provide HIPAA covered services. 

 

Quest®, Quest Diagnostics®, any associated logos, and all associated Quest Diagnostics registered or unregistered trademarks are the property of Quest Diagnostics. All third-party marks—® and ™—are the property of their respective owners. © 2024 Quest Diagnostics Incorporated. All rights reserved. Image content features models and is intended for illustrative purposes only.